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Results for "TMEM39B"

Variant Events: 9

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
TMEM39B     UK10K_SKUSE5080230chr1:
32557520-32557520
AGexonicDe novononsynonymous SNVNM_018056c.A835Gp.K279E35.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
TMEM39B     1-0972-003chr1:
32542930-32542930
CAintronicDe novo--Yuen2017 G
TMEM39B     iHART1995chr1:
32542368-32542369
TCTexonicMaternalframeshift deletionNM_018056c.357delCp.F119fs--Ruzzo2019 G
TMEM39B     3C140chr1:
32538610-32538610
GAUTR5De novo-2.0E-4Satterstrom2020 E
TMEM39B     1-0265-004chr1:
32545130-32545130
CTintronicDe novo--Yuen2017 G
TMEM39B     1-0508-003chr1:
32557969-32557969
GAintronicDe novo--Yuen2017 G
TMEM39B     14467.p1chr1:
32542858-32542858
CTexonicDe novostopgainNM_018056c.C529Tp.R177X35.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
TMEM39B     1-0265-003chr1:
32545130-32545130
CTintronicDe novo--Yuen2017 G
TMEM39B     SSC11925chr1:
32542858-32542858
CTexonicDe novostopgainNM_018056c.C529Tp.R177X35.0-Lim2017 E
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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